Linked Data
ClinVar Variation Id:
370772
ClinVar RCV Id:
RCV003633500
dbSNP Id:
rs1057516754
gnomAD v2:
12-76740040-TG-T
gnomAD v4:
12-76346260-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346262del , CM000674.2:g.76346262del | GRCh38 |
| NC_000012.11:g.76740042del , CM000674.1:g.76740042del | GRCh37 |
| NC_000012.10:g.75264173del | NCBI36 |
| NG_016357.1:g.7182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1724del MANE Select | ENSP00000497413.1:p.Pro575GlnfsTer2 | |
| ENST00000393262.3:c.1724del | ENSP00000376946.3:p.Pro575GlnfsTer2 | |
| NM_024685.3:c.1724del | NP_078961.3:p.Pro575GlnfsTer2 | |
| NM_024685.4:c.1724del MANE Select | NP_078961.3:p.Pro575GlnfsTer2 |